- E-ISSN2671-6771
E-ISSN : 2671-6771
Vol.2 No.2
Abstract
Infantile nystagmus syndrome (INS) is a genetically heterogeneous disorder. To date, more than 100 genes have been reported to cause INS and there is significant overlap in phenotypic characteristics. The most common form of X-linked INS is attributed to FRMD7 at Xq26. Recent advances in molecular genetics have facilitated the identification of pathogenic variants of FRMD7 and the investigation for underlying mechanisms of FRMD7-associated INS. This review summarizes genetic and clinical features of FRMD7-associated INS, and introduces updates on the pathogenesis of FRMD7 mutation.
Abstract
Mucopolysaccharidosis type III (MPS III or Sanfilippo syndrome) is a multisystem lysosomal storage disease that is inherited in an autosomal recessive manner. It consists of four subtypes (MPS IIIA, B, C, and D), each characterized by the deficiency of different enzymes that catalyze the metabolism of the glycosaminoglycan heparan sulfate at the lysosomal level. The typical clinical manifestation of MPS III includes progressive central nervous system (CNS) degeneration with accompanying systemic manifestations. Disease onset is typically before the age of ten years and death usually occurs in the second or third decade due to neurological regression or respiratory tract infections. However, there is currently no treatment for CNS symptoms in patients with MPS III. Invasive and non-invasive techniques that allow drugs to pass through the blood brain barrier and reach the CNS are being tested and have proven effective. In addition, the application of genistein treatment as a substrate reduction therapy is in progress.